Congenital Diaphragmatic Hernia (CDH)

A congenital diaphragmatic hernia (CDH) is a birth defect, which means it occurs before birth as a fetus is forming in the mother’s uterus. The diaphragm has an abnormal opening, and with this type of birth defect, some of the organs that are normally found in the abdomen move up into the chest cavity through this opening.

Learn more about congenital diaphragmatic hernia from one of CHOC’s own pediatric surgeons and CDH experts, Dr. Peter Yu.

Types of Congenital Diaphragmatic Hernia

There are two types of CDH:
  • Bochdalek hernia. A Bochdalek hernia usually involves an opening on the left side of the diaphragm. The stomach, liver, spleen and/or intestines usually move up into the chest cavity.
  • Morgagni hernia. A Morgagni hernia involves an opening in the middle of the diaphragm close to the front of the chest.

Causes of Congenital Diaphragmatic Hernia

As a fetus is growing in its mother’s uterus before birth, different organ systems are developing and maturing. The diaphragm develops between the seventh and twelfth weeks of pregnancy. The esophagus (the tube that leads from the throat to the stomach), the stomach and the intestines are also developing at this time. In a Bochdalek hernia, the diaphragm may not develop properly, or the intestine may become trapped in the chest cavity as the diaphragm is forming. In a Morgagni hernia, the tendon that should develop in the middle of the diaphragm does not develop properly. In both cases, normal development of the diaphragm and the digestive tract does not occur. Left-sided Bochdalek hernias make up about 80 to 90 percent of all cases. Morgagni hernias are much less common.

Developmental Complications from CDH

The lungs are developing at the same time as the diaphragm and the digestive system. A diaphragmatic hernia allows abdominal organs to move into the chest cavity, instead of remaining in the abdomen as they are developing. With the heart, lungs and abdominal organs all taking up space in the chest cavity, the lungs do not have space to develop properly. A diaphragmatic hernia is a life-threatening illness. When the lungs do not develop properly during pregnancy, it can be difficult for the baby to breathe after birth. The intestines also may not develop properly, especially if they are not receiving enough blood supply while they are developing. A good blood supply is necessary for the intestines to develop correctly, and to be healthy and function properly.

How is a diaphragmatic hernia diagnosed?

Diaphragmatic hernia can often be detected on fetal ultrasound in the second and third trimesters of pregnancy. A fetal echocardiogram (ultrasound of the heart) may also be done to check for heart abnormalities before the baby is born. Learn more about having a fetal echocardiogram at CHOC. If your baby has been diagnosed with a diaphragmatic hernia, we would be happy to schedule a consultation with your family and one of our top surgeons, as well as a CHOC neonatologist and your perinatologist, to prepare for the birth and subsequent care of your baby. After birth, your baby’s doctor will perform a physical examination. A chest X-ray is done to look at the abnormalities of the lungs, diaphragm and intestine. A blood test known as an arterial blood gas is often performed to evaluate the baby’s breathing ability. Other tests that may be performed include:
  • Blood test for chromosomes (to determine if there is a genetic problem)
  • Ultrasound of the heart (echocardiogram)

Symptoms of a Congenital Diaphragmatic Hernia

The symptoms of a Bochdalek diaphragmatic hernia are often observable soon after the baby is born. The following are the most common symptoms of a Bochdalek diaphragmatic hernia. However, each child may experience symptoms differently. Symptoms may include:
  • Difficulty breathing
  • Fast breathing
  • Fast heart rate
  • Cyanosis (blue color of the skin)
  • Abnormal chest development, with one side being larger than the other
  • Abdomen that appears caved in (concave)
A baby born with a Morgagni hernia may or may not show any symptoms.